Linked Data
ClinVar Variation Id:
888
ClinVar RCV Id:
RCV000000936
dbSNP Id:
rs431905496
ExAC:
5:78135257 A / C
gnomAD v2:
5-78135257-A-C
gnomAD v4:
5-78839434-A-C
PubMed:
PMID:17643332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78839434A>C , CM000667.2:g.78839434A>C | GRCh38 |
| NC_000005.9:g.78135257A>C , CM000667.1:g.78135257A>C | GRCh37 |
| NC_000005.8:g.78171013A>C | NCBI36 |
| NG_007089.1:g.152101T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1143-8T>G MANE Select | ENSP00000264914.4:n.1143-8T>G | |
| ENST00000264914.8:c.1143-8T>G | ENSP00000264914.4:n.1143-8T>G | |
| ENST00000396151.7:c.1143-8T>G | ENSP00000379455.3:n.1143-8T>G | |
| ENST00000565165.1:c.1143-8T>G | ENSP00000456339.1:n.1143-8T>G | |
| NM_000046.3:c.1143-8T>G | NP_000037.2:n.1143-8T>G | |
| NM_198709.2:c.1143-8T>G | NP_942002.1:n.1143-8T>G | |
| XM_005248506.3:c.1143-8T>G | XP_005248563.1:n.1143-8T>G | |
| XM_011543390.1:c.1143-8T>G | XP_011541692.1:n.1143-8T>G | |
| XM_011543391.1:c.1143-8T>G | XP_011541693.1:n.1143-8T>G | |
| XM_011543392.1:c.1143-8T>G | XP_011541694.1:n.1143-8T>G | |
| NM_000046.4:c.1143-8T>G | NP_000037.2:n.1143-8T>G | |
| XM_011543391.3:c.1143-8T>G | XP_011541693.1:n.1143-8T>G | |
| XM_011543392.3:c.1143-8T>G | XP_011541694.1:n.1143-8T>G | |
| XM_017009471.2:c.1143-8T>G | XP_016864960.1:n.1143-8T>G | |
| XR_001742065.2:n.1214-8T>G | ||
| XR_001742066.2:n.1214-8T>G | ||
| NM_000046.5:c.1143-8T>G MANE Select | NP_000037.2:n.1143-8T>G | |
| NM_198709.3:c.1143-8T>G | NP_942002.1:n.1143-8T>G |